RGD:14693371 Rat Genome Database

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Variant: RGD:14693371 -  Homo sapiens

RGD ID: 14693371
RS ID: rs1563988864
ClinVar ID: CV620811
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NPR2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 35,802,606
GRCh38 9 35,802,609
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009249.1:g.15201T>C
NC_000009.12:g.35802609T>C
NC_000009.11:g.35802606T>C
NM_003995.4:c.1815+2T>C
More... 		11/26/2018 splice donor variant uncertain significance Acromesomelic dwarfism Maroteux type; ACROMESOMELIC DYSPLASIA 1; Acromesomelic dysplasia, Maroteaux type; ST. HELENA DYSPLASIA
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NPR2
Accession:NM_001378923
Location:INTRON

Gene Symbol:NPR2
Accession:XM_024447561
Location:INTRON

Gene Symbol:NPR2
Accession:NM_003995
Location:INTRON

Gene Symbol:NPR2
Accession:XM_047423431
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000778883 CLINVAR
dbSNP (RS) rs1563988864 CLINVAR
MedGen C1864356 CLINVAR
NCBI Gene NPR2 CLINVAR
OMIM 108961 CLINVAR
  602875 CLINVAR